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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CNNM4
cyclin and CBS domain divalent metal cation transport mediator 4
Chromosome 2 · 2q11.2
NCBI Gene: 26504Ensembl: ENSG00000158158.13HGNC: HGNC:105UniProt: Q6P4Q7
65PubMed Papers
21Diseases
0Drugs
49Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein-containing complexintracellular monoatomic cation homeostasisprotein bindingplasma membraneJalili syndromeRetinal dystrophybipolar disordereye disease
✦AI Summary

CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4) is a membrane protein that functions as a magnesium transporter, facilitating Mg²⁺ efflux from cells 1. In the colon, CNNM4 mediates transcellular absorption of Mg²⁺ alongside TRPM6/7 channels 2. The protein contains a CBS domain that is critical for its function, as missense variants p.(Gly492Cys) and p.(Gly492Asp) in this domain reduce protein stability and significantly impair Mg²⁺ extrusion activity 3. CNNM4 regulates intracellular Mg²⁺ homeostasis through interaction with phosphatase of regenerating liver (PRL), which can inhibit CNNM4-dependent Mg²⁺ efflux 1. This regulation links Mg²⁺ homeostasis to energy metabolism via AMPK/mTOR signaling pathways 1. Pathogenic variants in CNNM4 cause Jalili syndrome, an autosomal recessive disorder characterized by cone-rod dystrophy and amelogenesis imperfecta 34. Clinically, CNNM4 appears to function as a tumor suppressor, as its expression shows an inverse relationship with colon cancer malignancy, and its deletion promotes malignant progression of intestinal polyps in mouse models 1. The protein may also play protective roles in other cancers by inhibiting cell migration and invasion 5.

Sources cited
1
CNNM4 functions as a membrane protein facilitating Mg²⁺ efflux and regulating energy metabolism via AMPK/mTOR signaling
PMID: 25347473
2
CNNM4 mediates transcellular Mg²⁺ absorption in the colon alongside TRPM6/7 channels
PMID: 38871680
3
Pathogenic CBS domain variants cause reduced protein stability and impaired Mg²⁺ extrusion activity in Jalili syndrome
PMID: 39580587
4
CNNM4 variants cause Jalili syndrome with cone-rod dystrophy and amelogenesis imperfecta
PMID: 36354001
5
CNNM4 may play protective roles in cancer by inhibiting malignant cell traits
PMID: 39696397
Disease Associationsⓘ21
Jalili syndromeOpen Targets
0.79Strong
Retinal dystrophyOpen Targets
0.52Moderate
bipolar disorderOpen Targets
0.44Moderate
eye diseaseOpen Targets
0.42Moderate
autism spectrum disorderOpen Targets
0.30Weak
schizophreniaOpen Targets
0.30Weak
Tourette syndromeOpen Targets
0.30Weak
anorexia nervosaOpen Targets
0.29Weak
attention deficit hyperactivity disorderOpen Targets
0.29Weak
major depressive disorderOpen Targets
0.29Weak
obsessive-compulsive disorderOpen Targets
0.29Weak
bipolar I disorderOpen Targets
0.24Weak
genetic disorderOpen Targets
0.19Weak
retinitis pigmentosaOpen Targets
0.15Weak
non-alcoholic steatohepatitisOpen Targets
0.08Suggestive
Hypomaturation amelogenesis imperfectaOpen Targets
0.07Suggestive
Hypoplastic amelogenesis imperfectaOpen Targets
0.07Suggestive
alcohol drinkingOpen Targets
0.07Suggestive
amelogenesis imperfectaOpen Targets
0.07Suggestive
amelogenesis imperfecta type 1GOpen Targets
0.06Suggestive
Jalili syndromeUniProt
Pathogenic Variants49
NM_020184.4(CNNM4):c.2149C>T (p.Gln717Ter)Pathogenic
Jalili syndrome|not provided
★★☆☆2025→ Residue 717
NM_020184.4(CNNM4):c.1813C>T (p.Arg605Ter)Pathogenic
not provided
★★☆☆2025→ Residue 605
NM_020184.4(CNNM4):c.1555C>T (p.Arg519Ter)Pathogenic
Jalili syndrome|not provided|Retinal dystrophy
★★☆☆2025→ Residue 519
NM_020184.4(CNNM4):c.1690C>T (p.Gln564Ter)Pathogenic
Jalili syndrome|not provided|Retinal dystrophy
★★☆☆2023→ Residue 564
NM_020184.4(CNNM4):c.613_621delinsA (p.Gly205fs)Pathogenic
Retinal dystrophy|not provided
★★☆☆2022→ Residue 205
NM_020184.4(CNNM4):c.1220G>T (p.Arg407Leu)Likely pathogenic
Jalili syndrome|not provided
★☆☆☆2025→ Residue 407
NM_020184.4(CNNM4):c.1423G>A (p.Val475Met)Likely pathogenic
Jalili syndrome
★☆☆☆2024→ Residue 475
NM_020184.4(CNNM4):c.2147A>G (p.Tyr716Cys)Likely pathogenic
Retinal dystrophy
★☆☆☆2024→ Residue 716
NM_020184.4(CNNM4):c.2035_2053dup (p.Gln685fs)Pathogenic
not provided
★☆☆☆2023→ Residue 685
NM_020184.4(CNNM4):c.2130+1G>APathogenic
not provided
★☆☆☆2023
NM_020184.4(CNNM4):c.471_484del (p.Asp157fs)Pathogenic
not provided
★☆☆☆2023→ Residue 157
NM_020184.4(CNNM4):c.212_222dup (p.Asn75delinsAlaAlaProTer)Likely pathogenic
Jalili syndrome
★☆☆☆2022→ Residue 75
NM_020184.4(CNNM4):c.1964del (p.His655fs)Pathogenic
not provided
★☆☆☆2022→ Residue 655
NM_020184.4(CNNM4):c.1759G>T (p.Glu587Ter)Pathogenic
not provided
★☆☆☆2022→ Residue 587
NM_020184.4(CNNM4):c.340del (p.Asp114fs)Pathogenic
not provided
★☆☆☆2022→ Residue 114
NM_020184.4(CNNM4):c.694_722del (p.Ile232fs)Likely pathogenic
Jalili syndrome
★☆☆☆2022→ Residue 232
NM_020184.4(CNNM4):c.1312dup (p.Leu438fs)Likely pathogenic
Jalili syndrome|Retinal dystrophy
★☆☆☆2022→ Residue 438
NM_020184.4(CNNM4):c.1234G>T (p.Glu412Ter)Pathogenic
not provided
★☆☆☆2022→ Residue 412
NM_020184.4(CNNM4):c.280del (p.Thr94fs)Pathogenic
not provided
★☆☆☆2022→ Residue 94
NM_020184.4(CNNM4):c.2148C>A (p.Tyr716Ter)Pathogenic
not provided
★☆☆☆2022→ Residue 716
View on ClinVar ↗
Related Genes
COX11Protein interaction84%CBSProtein interaction84%PTP4A2Protein interaction80%PTP4A1Protein interaction74%MMP20Protein interaction72%GMPSProtein interaction70%
Tissue Expression6 tissues
Heart
100%
Lung
44%
Bone Marrow
43%
Ovary
34%
Liver
27%
Brain
22%
Gene Interaction Network
Click a node to explore
CNNM4COX11CBSPTP4A2PTP4A1MMP20GMPS
PROTEIN STRUCTURE
Preparing viewer…
PDB6G52 · 3.69 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.45–0.79]
RankingsWhere CNNM4 stands among ~20K protein-coding genes
  • #7,154of 20,598
    Most Researched65
  • #1,356of 5,498
    Most Pathogenic Variants49 · top quartile
  • #6,566of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedCNNM4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Magnesium biology.
PMID: 38871680
Nephrol Dial Transplant · 2024
1.00
2
Functional and pathogenic insights into CNNM4 variants in Jalili syndrome.
PMID: 39580587
Sci Rep · 2024
0.90
3
Modulatory effects of CNNM4 on protein- l -isoaspartyl- O -methyltransferase repair function during alcohol-induced hepatic damage.
PMID: 39641635
Hepatology · 2025
0.80
4
Role of CNNM4 in the progression of cholangiocarcinoma: implications for ferroptosis and therapeutic potential.
PMID: 40764063
Gut · 2026
0.70
5
Protective effects of miR-24-2-5p in early stages of breast cancer bone metastasis.
PMID: 39696397
Breast Cancer Res · 2024
0.60